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Details of ALDH5A1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ALDH5A1 | SSADH | P51649 | SSDH_HUMAN | 7915 | ENSG00000112294 | Succinate-semialdehyde dehydrogenase, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. Note=The disease is caused by mutations affecting the gene represented in this entry. | 271980 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Aldh5a1 | Ssadh | alh-7 | Sp-Aldh5a1_1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| ALDH8A1 | ALDH5A1 | 0.073683835 | ALDH8A1 | ALDH5A1 |
| ALDH5A1 | ADI1 | 0.116986188 | ALDH5A1 | ADI1 |
| UMPS | ALDH5A1 | 0.087853096 | UMPS | ALDH5A1 |
| ALDH5A1 | FH | 0.102890517 | ALDH5A1 | FH |
| ALDH5A1 | ARF5 | 0.070606661 | ALDH5A1 | ARF5 |
| ALDH5A1 | SEC31A | 0.10066358 | ALDH5A1 | SEC31A |
| ALDH5A1 | ALDH1B1 | 0.213231782 | ALDH5A1 | ALDH1B1 |
| PKM | ALDH5A1 | 0.149045117 | PKM | ALDH5A1 |
| ALDH5A1 | SEC31B | 0.084085884 | ALDH5A1 | SEC31B |
| ACO2 | ALDH5A1 | 0.077110624 | ACO2 | ALDH5A1 |
| RPE | ALDH5A1 | 0.114097561 | RPE | ALDH5A1 |